Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

od Sivera, Rafael, Sevilla, Teresa, Vílchez, Juan Jesús, Martínez-Rubio, Dolores, Chumillas, María José, Vázquez, Juan Francisco, Muelas, Nuria, Bataller, Luis, Millán, José María, Palau, Fancesc, Espinós, Carmen
Wydane 2013

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

od Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
Wydane w PLoS One (2018)

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

od Hicks, Debbie, Sarkozy, Anna, Muelas, Nuria, Köehler, Katrin, Huebner, Angela, Hudson, Gavin, Chinnery, Patrick F., Barresi, Rita, Eagle, Michelle, Polvikoski, Tuomo, Bailey, Geraldine, Miller, James, Radunovic, Aleksander, Hughes, Paul J., Roberts, Richard, Krause, Sabine, Walter, Maggie C., Laval, Steven H., Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Wydane 2011

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

od Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Wydane w Neurology (2018)

NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY

od Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.
Wydane 2014

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

od Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Wydane 2011